Rare Variants | Tanigawa Lab

Integration of rare expression outlier-associated variants improves polygenic risk prediction

Thu, 02 Jun 2022 00:00:00 +0000

Polygenic risk score (PRS), an approach to estimate genetic liability to complex traits by aggregating the effects across multiple genetic variants, has attracted increasing research interest.

Bayesian model comparison for rare-variant association studies of multiple phenotypes

Thu, 25 Nov 2021 00:00:00 +0000

When applied to cardiometabolic biomarker traits in UK Biobank, MRP identified gene-biomarker associations that were not identified in single-variant GWAS analysis.

APOC3 genetic variation, serum triglycerides, and risk of coronary artery disease in Asian Indians, Europeans, and other ethnic groups

Tue, 21 Sep 2021 00:00:00 +0000

We examined the causal relationship between the genetically increased triglycerides and the risk of coronary artery diseases in Asian Indians.

Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma

Tue, 01 Sep 2020 00:00:00 +0000

From the analysis of more than 500,000 individuals in population cohorts, we identified rare protein-altering variants in ANGPTL7 that reduce the risk of glaucoma.

We identified rare protein-altering variants in ANGPTL7 that lower intraocular pressure and provide protection against glaucoma.

One of the alleles reported in the study (220C) is highly (50x +) enriched in the Finnish population, highlighting the power of a founder population with a prior bottlenecking event in genetic discovery.

With the comprehensive health information in the two studied cohorts, we assess the potential impact of the rare variants on a spectrum of human disorders. We did not find any severe medical consequences.

Our results indicate that ANGPTL7 is a safe and effective therapeutic target for glaucoma.

Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study

Tue, 24 Apr 2018 00:00:00 +0000

Using the UK Biobank population cohort, we investigated the genetic effects of Protein-truncating variants (PTVs) and the clinical impacts.